Allele Registry

Canonical Allele Identifier: PA2827292705

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000239746

RCV001059522

ClinVar Variation:

253295

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Gln1801Glu	CA10586300 NM_001330260.2:c.5401C>G